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DisGeNET

DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.

Source	Last Updated
DisGeNET	July 29, 2024

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Gene Name	UniProt ID
C0003504	Aortic Valve Insufficiency	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0175693	Russell-Silver syndrome	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1854465	TUBEROUS SCLEROSIS 1 (disorder)	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0013370	Amebic colitis	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0017662	Glomerulonephritis, Membranoproliferative	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C2931826	Potassium aggravated myotonia	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0006079	Bowen's Disease	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0345946	Squamous cell carcinoma of trachea	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1857276	Trichohepatoenteric Syndrome	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0033375	Prolactinoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0751560	Malignant neoplasm tonsil	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C4551861	Telangiectasia, Hereditary Hemorrhagic, Type 1	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0442874	Neuropathy	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0020255	Hydrocephalus	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0041296	Tuberculosis	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0206721	Inverted Papilloma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0346163	Endometrioid carcinoma ovary	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0796160	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0266929	Chronic Periodontitis	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0020676	Hypothyroidism	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0276496	Familial Alzheimer Disease (FAD)	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0079293	Epidermolysis Bullosa Acquisita	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0001816	Agnosia	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0205944	Sarcoma, Epithelioid	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0035344	Retinopathy of Prematurity	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336

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